Services:
Internal Medicine and Family Medicine: Adults suspected to have any genetic diseases or positive family history of genetic diseases, e.g. family history Huntington disease or cancer.
Cardiology: Patients with cardiomyopathy, prolonged QT syndrome, familial hyperlipidemias, etc.
Neurology: Patients with hereditary neuropathies, muscular dystrophies, early onset strokes, etc.
Endocrine: Patients with early onset diabetes, multiple endocrine disorders, etc.
Oncology: Family history of cancer or affected individuals with cancers who are suspected to have familial cancer (early onset tumors, multiple tumors, or family history of tumors)
Pediatrics: Some of the conditions that require genetic evaluation are:
- Developmental delay, intellectual disability, autism, and behavioral disorders
- Down syndrome and other chromosomal disorders and genetic syndromes
- Dysmorphic features and congenital malformation
- Skeletal malformation and growth failure
- Inborn error of metabolism (metabolic disorders) and mitochondrial disorders
- Variable other genetic/inherited neurologic, endocrine, cardiovascular, pulmonary, renal, gastrointestinal, hematologic, skeletal, and dermatological diseases.
Ophthalmology: Patients with retinitis pigmentosa, high myopia, optic atrophy, etc.
ENT: Patients with familial hearing impairment
Dermatology: Patients with ichthyosis, albinism, epidermolysis bullosa, etc.
Obstetrics and Fetal Medicine: Some of the conditions that require genetic evaluation are:
- Fetal anomalies to provide counseling and advice about prenatal genetic testing.
- Previously affected child or family history of genetic disease
- Infertility or recurrent miscarriages
- Intrauterine fetal death
- Couples seeking pre-implantation genetic testing
- Prenatal genetic testing
- Prenatal screening for chromosomal abnormalities
Preventative Genetics: Healthy individuals seeking advice and genetic counseling:
- Positive family history of genetic disease
- Genetic testing and counseling for carriers of genetic diseases
- Pre-marital genetic evaluation, screening, testing, and counseling
- Prenatal genetic evaluation, counseling, and testing (e.g. NIPT)
- Genetic evaluation and counseling for pre-implantation genetic testing
